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45/100

✓ Peer-reviewed alzhub usefulness score 45 out of 100. TREM2 and immune genetics

Topic: Amyloid, tau and blood-test diagnosis

We aimed to identify new candidate genes potentially involved in early-onset Alzheimer's disease (EOAD). Exome sequencing was conducted on 45 EOAD patients with either a family history of Alzheimer's disease (AD, <65 years) or an extremely early age at the onset (≤55 years) followed by multiple variant filtering according to different modes of inheritance. We identified 29 candidate genes potentially involved in EOAD, of which the gene TYROBP, previously implicated in AD, was selected for genetic and functional follow-up.

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APA 7th

Pottier, C., Ravenscroft, T. A., Brown, P. H., Finch, N. A., Baker, M., Parsons, M., et al. (2016). TYROBP genetic variants in early-onset Alzheimer's disease. Neurobiology of aging. https://doi.org/10.1016/j.neurobiolaging.2016.07.028

Vancouver

Pottier C, Ravenscroft TA, Brown PH, Finch NA, Baker M, Parsons M, et al. TYROBP genetic variants in early-onset Alzheimer's disease. Neurobiology of aging. 2016. doi:10.1016/j.neurobiolaging.2016.07.028. PMID: 27658901.

BibTeX

@article{pottier2016-27658901,
  author  = {Pottier, C. and Ravenscroft, T. A. and Brown, P. H. and Finch, N. A. and Baker, M. and Parsons, M. and Asmann, Y. W. and Ren, Y. and others},
  title   = {{TYROBP genetic variants in early-onset Alzheimer's disease}},
  journal = {Neurobiology of aging},
  year    = {2016},
  doi     = {10.1016/j.neurobiolaging.2016.07.028},
  pmid    = {27658901},
  url     = {https://doi.org/10.1016/j.neurobiolaging.2016.07.028}
}

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Key findings

Exome sequencing was conducted on 45 EOAD patients with either a family history of Alzheimer's disease (AD, <65 years) or an extremely early age at the onset (≤55 years) followed by multiple variant filtering according to different modes of inheritance.
We identified 29 candidate genes potentially involved in EOAD, of which the gene TYROBP, previously implicated in AD, was selected for genetic and functional follow-up.
Using 3 patient cohorts, we observed rare coding TYROBP variants in 9 out of 1110 EOAD patients, whereas no such variants were detected in 1826 controls (p = 0.0001), suggesting that at least some rare TYROBP variants might contribute to EOAD risk.
Overexpression of the p.D50_L51ins14 TYROBP mutant led to a profound reduction of TREM2 expression, a well-established risk factor for AD.

Why it matters

This study identified rare TYROBP genetic variants in some patients with early-onset Alzheimer's disease. It points to a possible genetic contributor but does not test any treatment, cure, or prevention.

New to this subject? Start with our plain-English guide: Genetics →

Study details

Evidence strengthLow

How this study scored 45/100

Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomized / blinded because the record does not state it.

Component	Points	Why
Journal tier	7 / 10	Tier 3 — peer-reviewed journal (Neurobiology of aging)
Journal's citation record	3 / 4	Neurobiology of Aging: journal h-index 263 (OpenAlex, 2026-10-29)
Study design	0 / 12	No study design recorded — scores zero, not guessed (not stated in the record — scored 0)
Strength of evidence	1 / 5	Rated “low” in our summary
Peer-review validation	10 / 10	Peer-reviewed. Published as an article in a named peer-reviewed journal.
How recent	1 / 5	2016 — within 20 year(s) of the newest study here
Sample size	0 / 4	Participant count not stated — scores zero (not stated in the record — scored 0)
Effect reported	0 / 3	No effect size reported — scores zero (not stated in the record — scored 0)
Studied in people	0 / 3	Not stated whether this was studied in people — scores zero (not stated in the record — scored 0)
Randomized / blinded	0 / 2	No randomization or blinding stated — scores zero (not stated in the record — scored 0)
Times cited	4 / 7	Cited 95 times (OpenAlex, 2026-10-10)
Citations per year	2 / 5	7.9 citations a year over 12 year(s) since 2016
Impact for its field and year	3 / 6	Cited 7.1× the average for papers of its field and year (OpenAlex FWCI)
Cited by studies here	3 / 6	Cited by 13 other studies in this library
Still being cited	1 / 4	Cited 11 times in 2024–2026 (2026 still in progress; OpenAlex)
Senior author's track record	4 / 4	Last-listed author Rosa Rademakers: h-index 119 (OpenAlex, whole career)
Institution's track record	2 / 3	University College London: institution h-index 2,029 (OpenAlex)
Multicenter collaboration	2 / 3	OpenAlex lists 9 institution(s) in 3 countries
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 27658901)
Free to read	0 / 2	Behind a paywall — scores zero
Total	45 / 100	—

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TYROBP genetic variants in early-onset Alzheimer's disease